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Inborn Errors of Metabolism

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101. Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism ¿ a systematic review. (Full text)

Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism ¿ a systematic review. In recent decades, considerable progress in diagnosis and treatment of patients with intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders (UCD), organic acidurias (OA), maple syrup urine disease (MSUD), or tyrosinemia type 1 (TYR 1) has resulted in a growing group of long-term survivors. However, IT-IEM still (...) require intense patient and caregiver effort in terms of strict dietetic and pharmacological treatment, and the threat of metabolic crises is always present. Furthermore, crises can affect the central nervous system (CNS), leading to cognitive, behavioural and psychiatric sequelae. Consequently, the well-being of the patients warrants consideration from both a medical and a psychosocial viewpoint by assessing health-related quality of life (HrQoL), psychological adjustment, and adaptive functioning

2014 Orphanet journal of rare diseases PubMed abstract

102. ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia. (Abstract)

ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia. Acyl-CoA oxidase (ACOX2) is involved in the shortening of C27 cholesterol derivatives to generate C24 bile acids. Inborn errors affecting the rest of peroxisomal enzymes involved in bile acid biosynthesis have been described. Here we aimed at investigating the case of an adolescent boy with persistent hypertransaminasemia of unknown origin and suspected dysfunction in bile (...) is a biochemical sign of liver damage due to multiplicity of causes (viruses, toxins, autoimmunity, metabolic disorders). In rare cases the origin of this alteration remains unknown. We have identified by the first time in a young patient and his only sister a familiar genetic defect of an enzyme called ACOX2, which participates in the transformation of cholesterol into bile acids as a cause of increased serum transaminases in the absence of any other symptomatology. This treatable condition should

2016 Journal of Hepatology

103. Inborn Errors of Long Chain Fatty Acid β-Oxidation Link Neural Stem Cell Self-Renewal to Autism (Full text)

Inborn Errors of Long Chain Fatty Acid β-Oxidation Link Neural Stem Cell Self-Renewal to Autism Inborn errors of metabolism (IEMs) occur with high incidence in human populations. Especially prevalent among these are inborn deficiencies in fatty acid β-oxidation (FAO), which are clinically associated with developmental neuropsychiatric disorders, including autism. We now report that neural stem cell (NSC)-autonomous insufficiencies in the activity of TMLHE (an autism risk factor that supports

2016 Cell reports PubMed abstract

104. Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis (Full text)

Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis Glutamine synthetase (GS) is a cytosolic enzyme that produces glutamine, the most abundant free amino acid in the human body. Glutamine is a major substrate for various metabolic pathways, and is thus an important factor for the functioning of many organs; therefore, deficiency of glutamine due to a defect in GS is incompatible with normal life. Mutations in the human GLUL gene (encoding for GS (...) ) can cause an ultra-rare recessive inborn error of metabolism-congenital glutamine synthetase deficiency. This disease was reported until now in only three unrelated patients, all of whom suffered from neonatal onset severe epileptic encephalopathy. The hallmark of GS deficiency in these patients was decreased levels of glutamine in body fluids, associated with chronic hyperammonemia. This review aims at recapitulating the clinical history of the three known patients with congenital GS deficiency

2016 Biology PubMed abstract

105. The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism

The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies (...) before adding more. The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. of clinical studies and talk to your health care provider before participating. Read our for details. ClinicalTrials.gov Identifier: NCT01780168 Recruitment Status : Recruiting First Posted : January 30

2013 Clinical Trials

106. Pediatrics, Inborn Errors of Metabolism (Treatment)

Pediatrics, Inborn Errors of Metabolism (Treatment) Inborn Errors of Metabolism Treatment & Management: Approach Considerations, Medical Care, Diet Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache (...) =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvODA0NzU3LXRyZWF0bWVudA== processing > Inborn Errors of Metabolism Treatment & Management Updated: Sep 20, 2017 Author: Debra L Weiner, MD, PhD; Chief Editor: Robert P Hoffman, MD Share Email Print Feedback Close Sections Sections Inborn Errors of Metabolism Treatment Approach Considerations Goals of treatment for patients with an inborn error of metabolism (IEM) are prevention of further accumulation of harmful substances, correction of metabolic abnormalities, and elimination of toxic metabolites. Even

2014 eMedicine Emergency Medicine

107. Pediatrics, Inborn Errors of Metabolism (Follow-up)

Pediatrics, Inborn Errors of Metabolism (Follow-up) Inborn Errors of Metabolism Treatment & Management: Approach Considerations, Medical Care, Diet Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache (...) =aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvODA0NzU3LXRyZWF0bWVudA== processing > Inborn Errors of Metabolism Treatment & Management Updated: Sep 20, 2017 Author: Debra L Weiner, MD, PhD; Chief Editor: Robert P Hoffman, MD Share Email Print Feedback Close Sections Sections Inborn Errors of Metabolism Treatment Approach Considerations Goals of treatment for patients with an inborn error of metabolism (IEM) are prevention of further accumulation of harmful substances, correction of metabolic abnormalities, and elimination of toxic metabolites. Even

2014 eMedicine Emergency Medicine

108. Pediatrics, Inborn Errors of Metabolism (Diagnosis)

Pediatrics, Inborn Errors of Metabolism (Diagnosis) Inborn Errors of Metabolism: Practice Essentials, Pathophysiology, Etiology Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvODA0NzU3LW92ZXJ2aWV3 processing (...) > Inborn Errors of Metabolism Updated: Sep 20, 2017 Author: Debra L Weiner, MD, PhD; Chief Editor: Robert P Hoffman, MD Share Email Print Feedback Close Sections Sections Inborn Errors of Metabolism Overview Practice Essentials Inborn errors of metabolism (IEMs) are a large group of rare genetic diseases that generally result from a defect in an enzyme or transport protein which results in a block in a metabolic pathway. Effects are due to toxic accumulations of substrates before the block

2014 eMedicine Emergency Medicine

109. Pediatrics, Inborn Errors of Metabolism (Overview)

Pediatrics, Inborn Errors of Metabolism (Overview) Inborn Errors of Metabolism: Practice Essentials, Pathophysiology, Etiology Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvODA0NzU3LW92ZXJ2aWV3 processing (...) > Inborn Errors of Metabolism Updated: Sep 20, 2017 Author: Debra L Weiner, MD, PhD; Chief Editor: Robert P Hoffman, MD Share Email Print Feedback Close Sections Sections Inborn Errors of Metabolism Overview Practice Essentials Inborn errors of metabolism (IEMs) are a large group of rare genetic diseases that generally result from a defect in an enzyme or transport protein which results in a block in a metabolic pathway. Effects are due to toxic accumulations of substrates before the block

2014 eMedicine Emergency Medicine

110. Unravelling new pathways of sterol metabolism: lessons learned from in-born errors and cancer. (Full text)

Unravelling new pathways of sterol metabolism: lessons learned from in-born errors and cancer. To update researchers of recently discovered metabolites of cholesterol and of its precursors and to suggest relevant metabolic pathways.Patients suffering from inborn errors of sterol biosynthesis, transport and metabolism display unusual metabolic pathways, which may be major routes in the diseased state but minor in the healthy individual. Although quantitatively minor, these pathways may still (...) be important in healthy individuals. Four inborn errors of metabolism, Smith-Lemli-Opitz syndrome, cerebrotendinous xanthomatosis and Niemann Pick disease types B (NPB) and C (NPC) result from mutations in different genes but can generate elevated levels of the same sterol metabolite, 7-oxocholesterol, in plasma. How this molecule is metabolized further is of great interest as its metabolites may have an important role in embryonic development. A second metabolite, abundant in NPC and NPB diseases

2017 Current opinion in clinical nutrition and metabolic care PubMed abstract

111. Patterns of inborn errors of metabolism: A 12 year single-center hospital-based study in Libya (Full text)

Patterns of inborn errors of metabolism: A 12 year single-center hospital-based study in Libya Inborn errors of metabolism (IEM) are mostly transmitted as autosomal recessive disorders and are therefore more frequent in countries with high consanguinity rates such as in the Arab world.To study the socio-demographic characteristics and the clinical presentation of IEM in Libyan children and to shed light on our experience in dealing with these disorders.This is a descriptive case series hospital (...) -based study of 107 children attending the Metabolic Unit at El-Khadra Teaching Hospital (MUKH) in Tripoli, Libya. The study took place between January 2001 and December 2012. Information was collected from caregivers and from all available hospital records on the following variables: age, sex, birth order, place of residence, age at onset, presenting complaints and family history of the same illness.During the 12-year study period, there were 55,422 live births at El-Khadra Teaching Hospital and 107

2013 Qatar Medical Journal PubMed abstract

112. Inborn Errors of Metabolism: Challenges and Management (Full text)

Inborn Errors of Metabolism: Challenges and Management 24426231 2014 01 15 2018 11 13 0970-1915 28 4 2013 Oct Indian journal of clinical biochemistry : IJCB Indian J Clin Biochem Inborn errors of metabolism: challenges and management. 311-3 10.1007/s12291-013-0371-7 Das Subir Kumar SK College of Medicine & JNM Hospital, WBUHS, Kalyani, Nadia, 741235 West Bengal India. eng Journal Article India Indian J Clin Biochem 8708303 0970-1915 2014 1 16 6 0 2014 1 16 6 0 2014 1 16 6 1 ppublish 24426231

2013 Indian Journal of Clinical Biochemistry PubMed abstract

113. A Genome-Scale Modeling Approach to Study Inborn Errors of Liver Metabolism: Toward an In Silico Patient (Full text)

A Genome-Scale Modeling Approach to Study Inborn Errors of Liver Metabolism: Toward an In Silico Patient Inborn errors of metabolism (IEM) are genetic diseases caused by mutations in enzymes or transporters affecting specific metabolic reactions that cause a block in the physiological metabolic fluxes. Therapeutic treatment can be achieved either by decreasing the metabolic flux upstream of the block or by increasing the flux downstream of the block. The identification of upstream (...) and downstream fluxes however is not trivial, since metabolic reactions are intertwined in a complex network. To overcome this problem, we propose an innovative computational workflow to model the alteration of metabolism caused by IEM and predict the metabolites and reactions that are affected by the mutation. Our workflow exploits a recent genome-scale metabolic network model of hepatocyte metabolism to identify metabolites accumulating in hepatocytes due to single gene mutations in IEM via an innovative

2013 Journal of Computational Biology PubMed abstract

114. Gaucher Disease and Malignancy: A Model for Cancer Pathogenesis in an Inborn Error of Metabolism (Full text)

Gaucher Disease and Malignancy: A Model for Cancer Pathogenesis in an Inborn Error of Metabolism Clinical observations spanning almost half a century have demonstrated a consistent association of type 1 Gaucher disease (GD1) and cancers. However, the cellular and molecular bases of the association are not understood. Gaucher disease (GD) is a lysosomal storage disorder due to an inherited deficiency of acid β-glucosidase that underlies the accumulation of glucosylceramide in lysosomes

2013 Critical Reviews in Oncogenesis PubMed abstract

115. Drug treatment of inborn errors of metabolism: a systematic review. (Full text)

Drug treatment of inborn errors of metabolism: a systematic review. The treatment of inborn errors of metabolism (IEM) has seen significant advances over the last decade. Many medicines have been developed and the survival rates of some patients with IEM have improved. Dosages of drugs used for the treatment of various IEM can be obtained from a range of sources but tend to vary among these sources. Moreover, the published dosages are not usually supported by the level of existing evidence

2013 Archives of disease in childhood PubMed abstract

116. Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis. (Full text)

Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis. 6061291 1968 01 21 2018 11 13 1468-2044 42 225 1967 Oct Archives of disease in childhood Arch. Dis. Child. Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis. 492-504 Oberholzer V G VG Levin B B Burgess E A EA Young W F WF eng Case Reports Journal Article England Arch Dis Child 0372434 0003-9888 0 Alkalies 0 Malonates 8W8T17847W Urea AYI8EX34EU Creatinine IM (...) Acidosis etiology Alkalies therapeutic use Brain metabolism Creatinine metabolism Female Humans Hydrogen-Ion Concentration Infant, Newborn Infant, Newborn, Diseases drug therapy metabolism Male Malonates blood cerebrospinal fluid urine Metabolic Clearance Rate Metabolism, Inborn Errors complications drug therapy metabolism Urea metabolism 1967 10 1 1967 10 1 0 1 1967 10 1 0 0 ppublish 6061291 PMC2019805 Biochem J. 1966 Dec;101(3):591-7 16742430 N Engl J Med. 1963 Jan 17;268:144-6 13969382 Lancet. 1962

1967 Archives of Disease in Childhood PubMed abstract

117. Inborn Error of Small Molecule Metabolism

Inborn Error of Small Molecule Metabolism Inborn Error of Small Molecule Metabolism Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 (...) Inborn Error of Small Molecule Metabolism Inborn Error of Small Molecule Metabolism Aka: Inborn Error of Small Molecule Metabolism II. Types Organic acid disorders Propionic acidemia Isovaleric acidemia Glutaric Acidemia Type I Beta-Ketothiolase deficiency 3-Methylcrotonyl-CoA Carboxylase Deficiency 3-Hydroxy-3-Methylglutaryl CoA Lyase Deficiency Carbohydrate metabolism defects See Amino acid metabolism and Urea Cycle defects Maple syrup urine disease Tyrosinemia Tryptophanuria Beta-alaninemia

2015 FP Notebook

118. Inborn Errors of Metabolism

Inborn Errors of Metabolism Inborn Errors of Metabolism Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Inborn Errors of Metabolism (...) Inborn Errors of Metabolism Aka: Inborn Errors of Metabolism II. Labs: Metabolic disorders tested on Newborn Screen See III. Pathophysiology All Metabolism ( , and Protein) Path: Acetyl-CoA to Krebs Cycle Disrupted pathway results in build up of ketones Path: Glycogen (and fructose, galactose) to to pyruvate to actetyl-CoA (and Krebs Cycle) Disrupted pathway results in build-up of and ketones Brain may use ketones for fuel by 12-24 hours and in chronic elevations Metabolism Path: Fat to free s

2015 FP Notebook

119. Concise Review: Updated Advances and Current Challenges in Cell Therapy for Inborn Liver Metabolic Defects (Full text)

Concise Review: Updated Advances and Current Challenges in Cell Therapy for Inborn Liver Metabolic Defects : The development of liver cell transplantation (LCT), considered a major biotechnological breakthrough, was intended to provide more accessible treatments for liver disease patients. By preserving the native recipient liver and decreasing hospitalization time, this innovative approach has progressively gained interest among clinicians. LCT initially targets inborn errors of liver (...) metabolism, enabling the compensation of deficient metabolic functions for up to 18 months post-transplantation, supporting its use at least as a bridge to transplantation. The rigorous clinical development and widespread use of LCT depends strongly on controlled and consistent clinical trial data, which may help improve several critical factors, including the standardization of raw biological material and immunosuppression regimens. Substantial effort has also been made in defining and optimizing

2016 Stem cells translational medicine PubMed abstract

120. Human Induced Pluripotent Stem Cell Approaches to Model Inborn and Acquired Metabolic Heart Diseases (Full text)

Human Induced Pluripotent Stem Cell Approaches to Model Inborn and Acquired Metabolic Heart Diseases The article provides an overview of advances in the induced pluripotent stem cell field to model cardiomyopathies of inherited inborn errors of metabolism and acquired metabolic syndromes in vitro.Several inborn errors of metabolism have been studied using 'disease in a dish' models, including Pompe disease, Danon disease, Fabry disease, and Barth syndrome. Disease phenotypes of complex (...) metabolic syndromes, such as diabetes mellitus and aldehyde dehydrogenase 2 deficiency, have also been observed.Differentiation of patient and disease-specific induced pluripotent stem cell-derived cardiomyocytes has provided the capacity to model deleterious cardiometabolic diseases to understand molecular mechanisms, perform drug screens, and identify novel drug targets.

2016 Current opinion in cardiology PubMed abstract

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